ClinVar Miner

List of variants reported as likely pathogenic for inherited aplastic anemia by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) rs1555429629

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